Williams syndrome
Conditions
Interventions
treatment group:Clemastine Fumarate
control group:Placebo
Sponsors
Qilu Hospital of Shandong University
Eligibility
Sex/Gender
All
Age
3 Years to 12 Years
Inclusion criteria
Inclusion criteria: 1.Age 3-12 years old; 2.GTF2I gene mutation was detected by whole exon; 3.Positive fluorescence in situ hybridization (FISH) test confirmed the diagnosis, showing chromosome 7q11.23 with 1.55 mb of microdeletion; 4.The subject and/or guardian sign the informed consent, agreeing to cooperate with the investigator throughout the clinical trial and collect clinical data and peripheral blood and urine samples;
Exclusion criteria
Exclusion criteria: 1.WS patients with other genetic mutations; 2.Antihistamines, monoamine oxidase inhibitors, barbiturates, and sedatives, as well as medications affecting cognitive behavior, limb movement, white matter myelin, and MRI in the 2 months prior to enrollment; 3.Fever (body temperature above 37.3 ° C); 4.Parents or children with infectious or neurodegenerative diseases are not eligible for experimental testing; 5.He has narrow-angle glaucoma, narrow peptic ulcer, pyloric duodenal obstruction, hyperthyroidism, symptomatic prostatic hypertrophy, and bladder neck obstruction. With severe immunodeficiency disease; 6.Allergic to Clomastine fumarate or other arylalkylamine antihistamines or any receptor; 7.Based on recent MRI and interpretation by neuroradiologists or WS, significant brain lesions were found that were not associated with WS disease; 8.Clinically significant metabolic, hematological, liver, immune, urinary, endocrine, neurological, pulmonary, psychiatric, skin, allergy, kidney, or other major conditions that may affect the interpretation of study findings or patient safety in WS's judgment; 9.Children deemed unsuitable for inclusion by other investigators;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Fractional Anisotropy;Social cognition score;Score of execution ability; | — |
Secondary
| Measure | Time frame |
|---|---|
| Score of Gesell Development Scale;Score of Wechsler Intelligence Scale for Children, fourth edition;Score of Vinland scale;Radial diffusivity;Clinical efficacy improvement score; | — |
Countries
China
Contacts
Public ContactCao aihua
Qilu Hospital of Shandong University
Outcome results
None listed